rs116733939, GPHN;RDH12

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.925 0.040 14 67727056 missense variant C/T snv 1.6E-05 3.5E-05 0.700 0
LEBER CONGENITAL AMAUROSIS 13
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
20 0.925 0.040 14 67727056 missense variant C/T snv 1.6E-05 3.5E-05 0.700 0